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Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. [electronic resource] by
- Beetz, Christian
- Zuchner, Stephan
- Ashley-Koch, Allison
- Auer-Grumbach, Michaela
- Byrne, Paula
- Chinnery, Patrick F
- Hutchinson, Michael
- McDermott, Christopher J
- Meijer, Inge A
- Nygren, Anders O H
- Pericak-Vance, Margaret
- Pyle, Angela
- Rouleau, Guy A
- Schickel, Jörg
- Shaw, Pamela J
- Deufel, Thomas
Producer: 20070724
In:
Human mutation vol. 28
Availability: No items available.
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28.
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Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. [electronic resource] by
- Morais, Sara
- Raymond, Laure
- Mairey, Mathilde
- Coutinho, Paula
- Brandão, Eva
- Ribeiro, Paula
- Loureiro, José Leal
- Sequeiros, Jorge
- Brice, Alexis
- Alonso, Isabel
- Stevanin, Giovanni
Producer: 20180201
In:
European journal of human genetics : EJHG vol. 25
Availability: No items available.
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First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. [electronic resource] by
- Magariello, A
- Tortorella, C
- Patitucci, A
- Tortelli, R
- Liguori, M
- Mazzei, R
- Conforti, F L
- Citrigno, L
- Ungaro, C
- Simone, I L
- Muglia, M
Producer: 20130617
In:
European journal of neurology vol. 20
Availability: No items available.
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